Clinical Practice Guideline for the Management of Patients with Autism Spectrum Disorders in Primary Care

Transcription

1 Clinical Practice Guideline for the Management of Patients with Autism Spectrum Disorders in Primary Care CLINICAL PRACTICE GUIDELINES IN THE SPANISH NATIONAL HEALTHCARE SYSTEM MINISTRY OF HEALTH, SOCIAL POLICY, AND EQUALITY

2

3 Clinical Practice Guideline for the Management of Patients with Autism Spectrum Disorders in Primary Care CLINICAL PRACTICE GUIDELINES IN THE SPANISH NHS MINISTRY OF HEALTH AND SOCIAL POLICIES

4 This CPG is an aid to decision making in health care. It is not mandatory nor replaces the clinical criteria of health care professionals. Published on: September 2009 Editor: Ministry of Science and Innovation ISBN: NIPO: Legal Deposit: M Produced by: ESTILO ESTUGRAF IMPRESORES, S.L. Pol. Ind. Los Huertecillos, nave CIEMPOZUELOS (Madrid)

5 This CPG has been financed by the agreement signed by the Carlos III Health Institute, an autonomous body belonging to the Ministry of Science and Innovation, and the Health Technology Assessment Unit of the Laín Entralgo Agency (Madrid), in the framework of collaboration within the Quality Plan for the National Health System of the Ministry of Health and Social Policy.. Quote: Guideline development Group of the Clinical Practice Guidelines for the Management of Patients with Autism Spectrum Disorders in Primary Care. Clinical Practice Guidelines for the Management of Patients with Autism Spectrum Disorders in Primary Care. Quality Plan for the National System of Health, Ministry of Health and Social Policy. Health Technology Assessment Unit. Laín Entralgo Agency, Clinical Practice Guidelines in the NHS: UETS No. 2007/5-3.

6

7 Table of contents Presentation 7 Authors and collaborations 9 Questions to be answered 11 Recommendations Introduction Scope and objectives Methodology Definition, clinical manifestations and classifications Diagnostic Criteria Early Detection ASD suspicion management strategies in Primary Care Key aspects to consider when providing information to parents Strategies for monitoring children with ASD in Primary Care Dissemination and Implementation Recommendations for future research Appendices 83 Appendix 1 Levels of evidence and grades of recommendation 83 Appendix 2 NANDA diagnoses (North American Nursing Diagnosis Association) for children with ASD and their families 85 Appendix 3 Haizea- Llevant development Monitoring Table 89 Appendix 4 Warning Signs 91 Appendix 5 PEDS Instrument: Questions on the concerns of parents about the development of their children 95 Appendix 6 Instrument for assessing the risk of ASD (M-CHAT) 96 Appendix 7 Autonomous Scale for detection of Asperger syndrome and highfunctioning autism 100 Appendix 8 Parents information for a suspected social and communicative 105 CLINICAL PRACTICE GUIDELINES IN THE SPANISH NHS 5

8 Appendix 9 Parents information for a diagnosed Autism Spectrum Disorder (ASD) 137 Appendix 10 Glossary and Abbreviations 161 Appendix 11 Declaration of interest 164 Bibliography CLINICAL PRACTICE GUIDELINE FOR THE MANAGEMENT OF PATIENTS WITH AUTISM SPECTRUM DISORDERS IN PRIMARY CARE

9 Presentation Care practice is increasingly complex due to several factors, among which is the increase of scientific information available. Science, something that is constantly changing, requires constant updated knowledge in order to meet the needs of health care and disease effectively and safely. In 2003, the Spanish NHS Interterritorial Council created the GuíaSalud project whose final aim is the improvement of quality in clinical decision-making. For this reason, a register of Clinical Practice Guidelines (CPG) in the National Health System has been developed based on explicit criteria generated by its scientific committee. In early 2006, the Directorate General of Quality Assurance Agency for Health developed the National Quality Plan for the National Health System, which includes 12 strategies. The purpose of this Plan is to increase the cohesion of the system and help ensure the highest quality healthcare to all citizens regardless of their place of residence. This plan includes the development of CPGs by different agencies and experts groups on prevalent pathologies related to health strategies. In this framework, this guide has been created to treat patients with Autism Spectrum Disorders (ASD) in Primary Care. Mental disorders are a major social and economic burden, both by its frequency, coexistence and co-morbidity, as well as by the disability they produce. In the case of ASD, there is a considerable impact on not only the development and welfare of those affected, but also their families. The chronic nature and severity of these disorders require the creation of a plan for early detection and personalised and permanent multidisciplinary treatment throughout the life cycle, with significant social and economic costs. The evidence that ASDs are more common than previously thought has increased in recent decades. Knowledge of this fact supports the development of this Clinical Practice Guideline on Autism Spectrum Disorders for Primary Care, as health professionals in this area of care, in coordination with other professionals (education, social services), are key actors of early detection and subsequent establishment of the best comprehensive care for children. They are also best placed to provide information, support and guidance to the family. We hope this guide will facilitate the work of professionals and improve the quality of care provided to children with ASD and their families. PABLO RIVERO CORTE Directorate General of the Quality Agency of the NHS CLINICAL PRACTICE GUIDELINES IN THE SPANISH NHS 7

10

11 Authorship and Collaboration Development Group of the CPG for the management of patients with Autism Spectrum Disorders in Primary Care Abad Cristina Sanz. Nurse. Primary Health Care Team José M ª Llanos Primary Health Centre. Madrid Josep Artigas Pallares. Paediatric neurologist / psychologist. Sabadell Hospital. Barcelona Diana Milena Bohorquez Ballesteros. Psychologist. University of Salamanca. Scholar at the University Institute on Community Integration (INICO). Salamanca Ricardo Canal Bedia. Psychologist. University of Salamanca. Professor of Behavioural Disorders. INICO. University of Salamanca Ángel Díez Cuervo. Neurologist / Psychiatrist. Medical Adviser of APNA-FESPAU and JARES Associations. Madrid M ª Inmaculada Dorado Siles. Mental Health Nurse. Mental Health Unit University Hospital Virgen del Rocío. Sevilla Cristina Espeso Sanz. Patient Representative. Spanish Federation of Associations of Parents of Autistic Children FESPAU. Madrid José Galbe Sánchez-Ventura. Paediatrician. Primary Health Care Team Torrero La Paz Primary Health Centre. Zaragoza Javier Gracia San Román. Physician in Preventive Medicine and Public Health. Health Technology Assessment Unit (UETS). Lain Entralgo Agency. Regional Ministry of Health. Madrid Juana María Hernández Rodríguez. Psychologist. Specific Team on Severe Development Alterations Ministry of Education of the Autonomous Community of Madrid Raquel Luengo González. Nurse / Anthropologist. Health Technology Assessment Unit (UETS). Lain Entralgo Agency. Regional Ministry of Health. Madrid Francisca Menchero Pinos. Paediatrician. Primary Health Care Team José M ª Llanos Primary Health Centre. Madrid Ruth Vidriales Fernandez. Psychologist. Patient Representative. Spanish Autism Confederation-CAE. Madrid Jose Vivancos Mora, neurologist, coordinator of the Stroke Unit, Hospital Universitario de La Princesa, Madrid. Cerebrovascular Disease Study Group, Spanish Society of Neurology (SEN) Coordination Francisco Javier Gracia San Roman and Raquel Luengo González. Health Technology Assessment Unit (UETS). Madrid External review Rosario Alonso Cuesta. Child Psychiatrist. Child Mental Health Unit. CLINICAL PRACTICE GUIDELINES IN THE SPANISH NHS 9

12 University Hospital Virgen del Rocío. Sevilla Celso Arango López. Child and adolescent psychiatrist. Integral Health Care of Autism Spectrum Disorders (AMI-TEA). University Hospital Gregorio Marañón. Madrid Leticia Boada Muñoz. Psychologist. Integral Health Care of Autism Spectrum Disorders (AMI-TEA). University Hospital Gregorio Marañón. Madrid Mercedes Elizalde Usechi. Paediatrician. Orcoyen Primary Health Center. Navarra Soledad Estébanez Ruiz. Paediatrician. Los Cubos Primary Health Center. Burgos Emilio Fernández Alvarez. Paediatric neurologist. Hospital Sant Joan de Déu. Barcelona Maria Frontera Sancho. Psychologist and Educator. University of Zaragoza. Professor of the Faculty of Education. Zaragoza Carlos Garcia Gil. Parent of a child with ASD. Madrid Santiago García-Tornel Florensa. Paediatrician. Hospital Sant Joan de Déu. Barcelona Francisco Gonzalez Ramos. General Practitioner. Villares de la Reina Primary Health Center. Salamanca Manuel Ángel Herrera Martiache. General Practitioner. Villares de la Reina Primary Health Center. Salamanca M ª Concepción Martín Arribas. Nurse. Research Institute on Rare Diseases. Carlos III Health Institute. Madrid Mara Parellada Redondo. Child and adolescent psychiatrist. Comprehensive Health Care of Autism Spectrum Disorders (AMI-TEA). University Hospital Gregorio Marañón. Madrid José Luis Peña Segura. Paediatric neurologist. Hospital Miguel Servet. Zaragoza Pedro Manuel Ruiz Lázaro. Child and adolescent psychiatrist. Universitary Hospital Lozano Blesa. Zaragoza Nieves Ines Sanchez-Camacho Gomez-Cambronero. Social Worker. Primary Care Team of José M ª Llanos Primary Helath Centre. Madrid Javier Tamarit Cuadrado. Psychologist. Quality Manager of the Confederation Spanish Organizations for Persons with Intellectual Disabilities Madrid Collaborating scientific societies and institutions This CPG has the support of the following organisations: Spanish Society of Professionals in Autism - AETAPI Spanish Association of Primary Care Paediatrics - AEPAP Spanish Federation of Associations of Parents of Autistic Children - FESPAU Spanish Confederation of Organisations in favour of People with Intellectual Disabilities - FEAPS Spanish Society for Paediatric Neurology - SENP Spanish Federation of Community Nursing and Primary Care - FAECAP Autism Confederation Spain - CAE National Association of Mental Health Nursing - ANESM Spanish Association of Child and Adolescent Psychiatry - AEPNYA Spanish Society for Family and Community Medicine - semfyc Declaration of interest: All the members of the Development Group have made a declaration of interest presented in Appendix CLINICAL PRACTICE GUIDELINE FOR THE MANAGEMENT OF PATIENTS WITH AUTISM SPECTRUM DISORDERS IN PRIMARY CARE

13 Questions to answer DEFINITION, CLINICAL MANIFESTATIONS AND CLASSIFICATIONS What is the definition of ASD? What is the aetiology of ASD? What is the co-morbidity of ASD? What are the clinical manifestations of ASD? What is the classification of ASD? DIAGNOSTIC CRITERIA What are the diagnostic criteria of ASD? Are the diagnostic criteria established in the DSM-IV-TR or ICD-10 manuals on ASD diagnosis useful? EARLY DETECTION Why is early detection important? How should the monitoring of a healthy child in Primary Care be carried out to detect early problems in the further development? Are there warning signs / specific criteria for suspicion of ASD useful for early detection in Primary Care? May the parent s warning be effective in Primary Care for risk assessment of ASDs? What rating scales of suspected ASD are most effective? Do we need a more comprehensive monitoring in risk groups? What is the minimum age of suspicion? ASD SUSPICION MANAGEMENT STRATEGIES IN PRIMARY CARE What are the steps to follow if there is any suspicion of ASD? What are the referral criteria of ASD? - Algorithm KEY ASPECTS TO CONSIDER WHEN PROVIDING INFORMATION TO PARENTS Does the information given to parents of children with suspected ASD amend their satisfaction and their ability to cope with the problem? What are the aspects to consider in relation to parents when providing information if there is a suspicion of ASD, and after a diagnosis of ASD? What is the basic information that Primary Care professionals are required to provide to parents of children with suspected or newly diagnosed ASD? CLINICAL PRACTICE GUIDELINES IN THE SPANISH NHS 11

14 STRATEGIES FOR MONITORING CHILDREN WITH ASD IN PRIMARY CARE How to plan the visit of children with ASD in Primary Care? What issues should be explored / monitored in the Primary Care visit of children with ASD? 12 CLINICAL PRACTICE GUIDELINE FOR THE MANAGEMENT OF PATIENTS WITH AUTISM SPECTRUM DISORDERS IN PRIMARY CARE

15 Recommendations Diagnostic Criteria C It is recommended that professionals involved in the detection of children with ASD, especially those with little experience, use the diagnostic DSM-IV-TR and / or ICD-10 manuals Early detection C D D Early identification of children with ASD is recommended as part of the monitoring healthy child care process Health and educational professionals should regularly discuss with parents the psychomotor, intellectual and behavioural development of their children (at least between 8-12 months, between 2-3 years and between 4-5 years old) as part of the monitoring of the healthy child Health professionals should incorporate a high level of vigilance in the fields of social, play, language and behaviour development for the early identification of ASD and related disorders In the monitoring of healthy child development in Primary Care, to help detect any developmental disorder, including ASD, it is recommended the use of scales (such as the Haizea Llevant scale developed in our context) (Appendix 3) Warning signs D, Healthcare professionals should monitor the development of healthy children taking into account the warning signs proposed (Appendix 4): - Immediate warning signals - Compendium of ASD warning signs according to age periods Warnings from parents C C Concerns or warnings from parents regarding their child s development should be valued as much as the very presence of abnormal features Take advantage of any visit (routine monitoring or due to illness) to consult the parents on concerns regarding their child s development Professionals can use the items of the PEDS scale to direct questions about parental concerns (Appendix 5) Rating scales of suspected ASD C Population screening for ASDs is not recommended with the instruments developed at thismoment, although the capability of the M-CHAT and the Autonomous Scale is being investigated CLINICAL PRACTICE GUIDELINES IN THE SPANISH NHS 13

16 B, C B, C We recommend the M-CHAT instrument as a useful tool to confirm clinical suspicion of ASD in children between 16 and 30 months (Appendix 6) We recommend using the Autonomous Scale, in children older than 5 years as a useful tool to confirm clinical suspicion of Asperger s disorder (Appendix 7) Monitoring in risk groups C, D C It is recommended to take into account those factors associated with the development of ASD in regular visits: perinatal factors (consumption of drugs or teratogenic substances, perinatal infections, gestational diabetes, gestational bleeding, foetal distress, prematurity, low birth weight), metabolic diseases, older parents, parents with a history of schizophrenia or affective psychosis and a family history of ASD (siblings with ASD) Professionals should carry out a close monitoring of the development of those siblings of children with ASD as these are a risk group Minimum age of suspicion C Practitioners should monitor the presence of any warning signals from at least 6 months of age Given that there is no evidence of a minimum age for alterations, referral to Specialised Care may be considered at any age when there is a suspicion of ASD Aspects to consider when providing information to parents for suspected ASD D Q Practitioners should provide information to parents about what is appropriate child development It is recommended to always address any concerns parents may have about the behaviour or development of their child to improve their satisfaction with the treatment received by the professional It should be remembered that new parents or parents without previous references may have more difficult to detect disorders in their children s development When there is a suspicion of ASD, parents should be warned but not alarmed, making them aware of the importance of immediate evaluation Professionals should provide correct information to help parents realize their child s problems, because some families have difficulty recognizing, understanding and accepting the disorder, especially when professionals are giving completely unexpected information It is recommended NOT TO USE the terms disorder or autism (since a diagnosis has not been made yet), and use expressions such as: your child seems not to have a communicative and social development appropriate for his or her age Action must be taken to the feelings of fear and denial of parents by being positive, non-judgmental and actively listening to concerns about the referral to Specialised Care 14 CLINICAL PRACTICE GUIDELINE FOR THE MANAGEMENT OF PATIENTS WITH AUTISM SPECTRUM DISORDERS IN PRIMARY CARE

17 D If there is any suspicion of ASD, one must be agile and provide information on the diagnostic process (referral), to increase satisfaction and confidence of parents and reduce their uncertainty (Appendix 8) The Health Care Team, especially the social worker, should take an enabling role when providing and interpreting information together with families Aspects to consider when providing information to parents after a diagnosis of ASD Q D D Q Professionals must accept and understand the first emotions resulting from the diagnosis as part of the process of accepting the new reality Professionals should provide objective and simple information to parents about what are ASDs, their aetiology, and respond to any questions that may apply, so that they can control the situation as soon as possible and increase their ability to cope with it (Appendix 9) Professionals should be wary of burnout, depression and stress phenomena of the primary caregiver, usually the mother Professionals should be positive in the messages that are transmitted so that the process of adaptation and acceptance of families is effective, since they must rebuild their social conceptualization of what it means to have a child with autism, as well as acquire management skills The Health Care Team, especially the social worker, should take an enabling role when providing and interpreting information together with families Management and monitorization of children with ASD in Primary Care Professionals should take account of the symptoms and behavioural disorders of children with ASD to prepare, in coordination with parents, the visits of the child to prevent overstimulation or confusion and potential health problems or risk behaviours C B D It would be useful to register children with ASD by maturation level (IQ or developmental level) as it is a key prognostic factor, which determines the global evolution (learning, communication, social skills) Professionals can use visual support interventions such as the use of pictograms, cartoons, dolls imitation, to support communication processes in children with ASD. Example: to show them the instruments, procedures and techniques, exploration of pain and other symptoms Professionals should use short simple sentences, without double meanings to communicate previously to the child what he or she will do, and use direct orders when asking them for something, using the support of parents to understand and communicate CLINICAL PRACTICE GUIDELINES IN THE SPANISH NHS 15

18 In the visit of children with ASD, Primary Care professionals should: Coordinate with parents so that they anticipate the visit to the child Try not to wait for a long time in the waiting room, especially if it is full of other patients Trust in the management criteria of parents Welcome the child in a calm and orderly environment Reinforcement with prizes (toys, stickers and others) may facilitate future visits In case a certain procedure that involves physical contact is required, it is necessary to assess risk / benefit of doing so. For example, blood tests, for which he or she should be as much prepared as possible, accepting more flexible rules such as allowing the parent to accompany the child or adapting the procedure if necessary Be aware of disorders and behavioural sensitivity to detect: masked symptoms such as pain, certain harmful or dangerous habits like inhaling or ingesting toxic substances, self-harm D D D B C C A, B Adjust the format of the medication to the child s preferences as much as possible (i.e., syrup instead of tablets) Professionals should monitor the nutritional status of children with ASD, recommending dietary supplements if necessary or even referring Professionals should manage the gastrointestinal problems of children with ASD in the same way as those of children without ASD, taking into account that the existence of functional gastrointestinal problems (constipation, bowel disorders, and others) can have major adaptive and behavioural consequences than in population without ASD Professionals should inform parents about healthy habits such as diet or exercise, leisure and free time activities, selecting those which, within the limits of the family and those provided by the community, provide enjoyment and child welfare Monitor oral health of children with ASD. In case of eating toothpaste, do recommend one without fluoride. Patients and parents associations can provide guidance on which dentists have experience attending children with autism, as sometimes certain changes in the procedures may be necessary. The same applies if ophthalmic checkups are required All children with ASD should follow the immunisation schedule established just like any other children, including vaccination of MMR (rubella, measles and mumps). Professionals should inform about the importance of this to parents Professionals should monitor the presence of sleep disorders, using as a first step behavioural strategies to manage them and training parents on this issue Professionals should inform parents that there is no evidence that ASDs are associated with digestive disorders Professionals should inform parents that currently there is no evidence of the effectiveness of diets free of gluten and casein, secretin, vitamin B6 plus magnesium, Omega-3 fatty acid, dimethylglycine, hyperbaric oxygen therapy and music therapy for specific treatment of ASD 16 CLINICAL PRACTICE GUIDELINE FOR THE MANAGEMENT OF PATIENTS WITH AUTISM SPECTRUM DISORDERS IN PRIMARY CARE

19 C, D Professionals should inform parents that currently there is no evidence of the effectiveness of antifungal therapy, chelating agents and immunotherapy Professionals should inform parents that there are currently some alternative treatments that have no scientific basis to support their use and could be potentially dangerous, so they should be advised to consider only those interventions recommended by professionals CLINICAL PRACTICE GUIDELINES IN THE SPANISH NHS 17

20 18 CLINICAL PRACTICE GUIDELINE FOR THE MANAGEMENT OF PATIENTS WITH AUTISM SPECTRUM DISORDERS IN PRIMARY CARE

21 1. Introduction Mental health, as an indivisible part of health, contributes significantly to the quality of life and full social participation. Mental disorders are a major social and economic burden, both by their frequency, coexistence and comorbidity, as well as by the disability they produce. Mental illness is the second major cause of disease burden in societies with market economies, with no prospect of control of these figures, as a significant increase has been predicted 1. In our context, it is confirmed as one of the main contributors to the loss of years of life free of disease, using as a measure of disease burden the rate of DALYs (Disability Adjusted Life Years) 2. Therefore, mental health has required special attention by all those involved, reflected in the course of action of the document Mental Health Strategy for the National Health System 3 : health care to patients, coordination between institutions, scientific societies and associations, training of health personnel, promoting research and information and evaluation systems. The aim of this strategy is to improve the care of people with these disorders, reduce stigma and marginalisation to which they are subject and encourage prevention, early diagnosis, treatment, rehabilitation and social integration. In the case of children with special needs the Technical Report on health and social problems of children in Spain (2005) 4 and the White Paper on Early Care 5, reiterated the priority of maximizing the development of those children who have deficiencies and encourage their academic and social integration and personal autonomy. In addition, it states that this goal requires adequately trained professionals working in interdisciplinary cooperation and coordination with parents and the institutional entities involved (health, educational, social). Autistic Spectrum Disorders (ASDs) are part of mental health problems. ASDs are a number of neuropsychiatric disorders, classified as pervasive developmental disorders according to the diagnostic classification of DSM-IV-TR, which can be detected at an early age (by definition, autistic disorder is before 3 years old) 6. This dysfunction has a major impact on not only the proper development and welfare of the individual concerned but also on the family, given the high burden of personalised care they need 7. In addition, it must added, that the prevalence of such disorders has increased considerably, which together with its chronic nature and the severity of disorders, require a multidisciplinary customised and continuing treatment plan throughout the life cycle, under constant review and monitoring. This plan promotes the full potential of people with ASD and promotes their social integration and quality of life 8. As with other mental health disorders or other disabilities, these are a problem that can cause stigma, which is further aggravated by a rare disorder to be socially visible, hidden or poorly understood by citizens and institutions as a whole. Families show feelings of isolation, invisibility and lack of knowledge of what are ASDs by the society in general 9, 10. The diversity of clinical manifestations that can occur in ASD hinders early detection of symptoms consistent with such disorders 11, and consequently the diagnosis is delayed, which in many cases is not confirmed before the age of 3. In addition, there is a lack of knowledge of the problem in medical and educational fields. In order to achieve a diagnosis as early as possible, it is very important to raise awareness of the importance of early detection of ASDs and provide tools to help an early detection and make decisions in this regard 12. This document is the full version of Clinical Practice Guidelines for the Management of Patients with Autism Spectrum Disorder (ASD) in Primary Care (PC). Early detection and monitoring. The Clinical Practice Guideline (CPG) is structured by chapters that provide answers to the questions that have been stated at the beginning of this document. A summary of scientific CLINICAL PRACTICE GUIDELINES IN THE SPANISH NHS 19

22 evidence and recommendations is presented at the end of each chapter. Throughout the text, in the right margin the type of study and the possibility of bias in the literature reviewed are shown. The material that presents the detailed information with the methodological process of the CPG (search strategy for each clinical question, guide tables) is available both on the website GuíaSalud as in the UETS, Health Technology Assessment Unit of Lain Entralgo Agency (Madrid). These websites also include the Methodological Manual on CPG development process which contain the general methodology employed 13. Moreover, there is a condensed version of the CPG, to a lesser extent and with the appendices to the main CPG full version, a quick guide with the recommendations, scales and key algorithms, and a version for parents and families of children with suspected and diagnosed with ASD. These versions are found on the websites listed as the printed version. Prevalence of Autism Spectrum Disorders and burden of the disease Autism has traditionally been considered a low prevalence disorder. The estimated figures from the 70s state around 4-5 per 10,000, but today the numbers have increased The estimated overall prevalence for autistic disorder, Asperger disorder, childhood disintegrative disorder and pervasive developmental disorder not otherwise specified are shown in Figure 1. Figure 1. Prevalence of Pervasive Developmental Disorders PDD / * * Data from Fombonne15 More recent studies even reach a higher prevalence of 60 per for the entire autistic spectrum, as in the study in the population of New Jersey (United States), which provided prevalence data from a total of 67 cases per 10,000 children for the entire autistic spectrum, divided into 40 cases per 10,000 children for autistic disorder and 27 cases per 10,000 for Asperger s Disorder 18, or the study of Kent (United Kingdom) with a prevalence of 82.2 per 10,000 for the whole autism spectrum 19. The increase in numbers has been gradual over the past 30 years. Some authors agree with the highest estimates and argue that it is due to a change in diagnostic criteria, now less restrictive to expand the spectrum (Asperger s Disorder was included in the manuals in the 90s), and an increase of the sensitivity of professionals to these disorders 20. On the contrary, other authors suggest that current data does not fully support this hypothesis and the numbers should be monitored in the coming years to ensure that there really is no increase in the incidence of autism CLINICAL PRACTICE GUIDELINE FOR THE MANAGEMENT OF PATIENTS WITH AUTISM SPECTRUM DISORDERS IN PRIMARY CARE

23 In the Spanish context, few studies have addressed this disorder in different Autonomous Communities. The results have not exceeded an estimated prevalence of 5 per 10,000 cases in Spain, but the data are from studies conducted between the years 1990 to 1998, there being no subsequent records 10, 21, 22. One study calculated an estimate of the incidence in Spain by age group from the incidence rates of a studio in Australia, reaching an adjusted incidence rate of 8 per 10,000 for the group of autism and Asperger disorder in the 0-4 age group, and 3.5 per 10,000 in the age group 5-9 and 1.4 per 10,000 in the years age group 23. It has also been observed that men are more likely than women to suffer from this disorder, with an estimated ratio of 4:1, without significant differences in the proportion of cases of autism among the different social classes and cultures studied 24,25. The onset age of these disorders is very early, in some cases the first signs have been observed during the first year of life, hence the importance of comprehensive monitoring of child development 26. In regard to the effect of cognitive ability, according to data of some authors, intellectual disability among people with ASD was 29.8% (67% among people with autistic disorder, 12% among children with pervasive developmental disorder not otherwise specified and 0% among children with Asperger disorder) 17. According to the survey by the INE (National Statistics Institute) on disabilities, impairments and health in the year 1999, in our country there are 3.8 million disabled people, of which some 4,500 people are diagnosed with autism (0.12 %) 27. However, despite the chronic nature of these disorders, not all people diagnosed with autism are in a situation of dependency. Many children with ASD can achieve high levels of functionality and independence, depending not only on their characteristics or the severity of disorders (low or normal IQ, presence or lack of functional language), but also in terms of support received from an early stage, both to the child and the family. The figures regarding the social cost of people with ASD are high. An economic review from 2007 estimated the total costs needed for an autistic person over his life at 3.2 billion dollars. This study is based on a review of studies from the United States, UK and Canada, by doing an age distribution according to direct costs (medical and nonmedical) and indirect (lost productivity in people with autism and the time parents devote to children with autism) 28. Another study from 2006 compared the annual cost of medical services among children aged 2 to 18 years diagnosed with autism and without autism, and it estimated an annual cost is three times higher in the group of children with autism in comparison to those who do not suffer from this disorder 29. The study was conducted with the population of a health plan in Northern California. They concluded that the use of health services and the cost of these were significantly higher for children with ASD compared with children without ASD 29. According to a study on the overall ASD morbidity burden in Spain in 2003, 43,928 Disability Adjusted Life Years (DALY) were estimated, of which 33,797 were attributable to autistic disorder and 10,131 to Asperger disorder together with pervasive developmental disorder not otherwise specified. These figures were calculated on a reference population of 6,043,479 (children between 0 and 14 years in Spain in 2003, representing 14.5% of total population). A significant aspect of this study refers to the importance of early detection and early intervention of ASD. According to the same study, when the morbidity burden is adjusted after receiving a proper early intervention, experts estimate a reduction in the disability weight of 0.4 in the group with autistic disorder, and 0.25 in Asperger s disorder and pervasive developmental disorders not otherwise specified; representing a total reduction of 11,817 Disability Adjusted Life Years (26.95%). However, the real benefit of early intervention can not simply be assessed in terms of morbidity burden, as it also implies a reduction of family stress, increased coping ability of the problem and increased CLINICAL PRACTICE GUIDELINES IN THE SPANISH NHS 21

24 optimism in the future, so for this reason, the benefits are much higher than the simple reduction of Disability Adjusted Life Years 23. Variability in clinical practice Although ASDs are often seen in very early ages, not all professionals who evaluate healthy child development both in Primary Care (paediatricians, nurses, general practicioners), and the educational field (teachers and educators) have incorporated into their daily practice a surveillance system to detect developmental disorders effectively, so sometimes a first diagnosis may be delayed months or even years 30, 31. Primary Care professionals may have little information or training to detect any developmental abnormalities, or these are not as present as other diseases or disorders of child development 32, 33. Similarly, it is common not to know what instruments or scales are useful for early diagnosis of ASD. A report 30 on late diagnosis of ASD in Spain, involving 607 families from all over Spain, found that the family is the first to suspect that something was wrong in the development of their son or daughter when he or she is 1 year and 10 months and that the average age of first medical consultation is around 2 years and 2 months. 63% of paediatricians refer to specialised services before 6 months, but 21% do so after 6 months, and 16% never gets referring. This same study shows that although 72% of families said to have gone at some point to a public health visit (51% mention Primary Care) less than 38% have received a specific diagnosis in the public health care, as families end up turning to private care primarily arguing lack of knowledge about ASD in public health and private assistance being faster and better to confirm the diagnosis. This diagnostic delay is even greater in the Asperger disorder and autism without associated intellectual disabilities (sometimes called high functioning autism, although experts do not recommend the use of this term because it does not represent any diagnostic category), where symptoms can go unnoticed in the early years. In fact, the diagnosis of Asperger disorder, in children under 4 years can be very difficult. In Spain, data from a recent study 34 have shown that the diagnostic process usually takes several years and the age for diagnosis may be delayed up to 11 years; other international studies have shown the same delay for the group of children with ASD and in particular, with Asperger s disorder 35. Therefore, it is necessary to encourage early detection taking into account the gradual range of symptoms and degrees of involvement of ASD, from the slightest alteration to the most serious developmental disorders. Some professionals may think optimistically that the child has only mild signs of developmental delay that he or she is a bit slow but that will recover with time and reach the others 36, 37. This favours delayed diagnosis, leading some parents to a situation of helplessness, visiting different medical consultations, to find a professional to guide the diagnosis 30. The anxiety and uncertainty with which they live is very important during this period 38, 39. Another study carried out in Spain in over 68 families and 109 health professionals describes the problems of accessibility for people with ASD to the health system % of families said they had difficulties in making the diagnosis of the disorder due to ignorance on the part of professionals (28.2%), the diversity of diagnoses (23.1%), delays in obtaining a diagnosis (15.4%), lack of knowledge about where to go (12.8%), little or no coordination between the professionals involved (12.8%), and the need to move to another city (7.7%). Concerning the time it took to get a definitive diagnosis, 41.4% of the families stated that it took more than four years to receive a definitive diagnosis. On the other hand, 80% of health professionals felt that they knew little or nothing about autism, and 20% knew some or very much about this disease. Therefore, the priority is to provide the necessary information for early detection to both Primary Care practitioners (paediatricians, family physicians, nurses) 10, 41, 42, as well as educa- 22 CLINICAL PRACTICE GUIDELINE FOR THE MANAGEMENT OF PATIENTS WITH AUTISM SPECTRUM DISORDERS IN PRIMARY CARE

25 tional services, since these professionals are the ones who will be consulted first by parents if they detect any change, or they will be the ones to detect changes in the scheduled assessments of the child. Early detection will depend on these professionals having appropriate knowledge about the disorder It is also critical that parents obtain objective and reliable information, based on evidence, after a suspected ASD. Such information will reduce the stress and uncertainty in the process of referral to Specialised Care (SC), to both Primary Care professionals and parents, preparing them well for it. Treating an ASD patient in Primary Care following diagnosis may be influenced by certain problems associated with these disorders and may require some consultation by the family to the paediatrician or Primary Care professional. It is therefore important to know the symptoms and co-morbidity associated with ASD, so that prevention and health promotion measures can be carried out, also facilitating the accessibility of children with ASD to health care 40. Given the relevance of ASD, in some Autonomous Communities programs to provide specialised health care to patients with ASD are being created, thus eliminating all the barriers that the system has for these patients to be treated in accordance with their capabilities and features. One example is the AMI-TEA program (integral health care of patients with ASD), established in the Community of Madrid, University Hospital Gregorio Marañón. The importance of early detection of autism spectrum disorders Early detection will lead to early intervention in children with ASD and their families, which will help to reduce family stress, increase coping skills and the development of social adaptation of children in the future 45. Institutions which support ASDs, professionals and relevant publications suggest that identification and early diagnosis are important (see Table 1) 46 : Table 1: Benefits of early diagnosis of ASD 46 : prevents or rectifies erroneous diagnoses helps identify family support needs reduces parents uncertainties helps identify education options helps in vocational guidance, and identifies services that facilitate this choice provides access to resources, support and services helps people with ASD to understand themselves and others helps others understand people with ASD, including family, couples and society prevents future comorbidity problems reduces isolation allows genetic counselling to families allows adequate environmental support guides the identification of the broader phenotype of ASD in family members facilitates contact with other people or relatives with ASD CLINICAL PRACTICE GUIDELINES IN THE SPANISH NHS 23

26 Early care resulting from early detection of health problems is justified by itself, since the therapeutic delay is always seen as a failure of the health system. Early care is defined as the set of interventions aimed at children of 0-6 years, the family and the environment, which aim to respond as soon as possible to the temporary or permanent needs presented by children with developmental disorders or who are at risk of suffering them. These interventions, which must consider the child as a whole, must be planned by a team of interdisciplinary and transdisciplinary orientation professionals 5. Most of these teams are formed by psychologists, educational psychologists, speech therapists, physiotherapists, psychomotor therapists and neurologists. In the case of a developmental disorder, early intervention will at least reduce family stress and uncertainty about the future of the affected child. This guide is intended, therefore, to be a useful tool for all professionals involved in early detection and monitoring of ASD in Primary Care, as well as parents and families involved in this care, so as to improve the quality of life of children with ASD and their families.

27 2. Scope and objectives The main purpose of this guide is to help health professionals in Primary Care to be able to perform an early detection and monitoring of children with ASD according to recommendations based on scientific evidence. The topics covered in the guide are presented in the following specific objectives: Making Primary Care paediatricians and family physicians able to identify early developmental abnormalities and specific signs of suspected autism spectrum disorders in children, and to proceed with an appropriate referral for specialised care. Facilitate the Primary Care nursing staff and even other professionals related to early detection (teachers, counsellors) the ability to recognize early warning signs indicative of a developmental abnormality and specifically of an autism spectrum disorder. Provide primary health care professionals the right information to give to the family with a suspected case of ASD that requires referral and after the confirmed diagnosis. Train Primary Care professionals to act in a coordinated and effective way (each according to his professional duties) when monitoring children with ASD in Primary Care. These objectives aim to improve the communication channels between Primary Care and Specialised Care to facilitate early diagnosis and expedite a customised care plan, hoping to improve the quality of life of the patients and their families. The guide considers, within ASDs: autistic disorder, pervasive developmental disorder not otherwise specified, Asperger disorder, Rett disorder and childhood disintegrative disorder, taking into account that these are within the category of Pervasive Developmental Disorders (PDD) according to the classification of DSM-IV-TR diagnosis. The DSM-IV-TR considers ASDs as PDDs, so both names are equivalent. Currently, most authors do not consider Rett disorder and childhood disintegrative disorder within ASDs due to their special clinical features, however, given the scope of this guide, all PDDs will be considered within ASDs. This guide focuses on children from 0 to 6 years old, a period that covers most of the diagnoses of ASDs 47 and which coincides with the Early Warning Surveillance period 5. This timeframe excludes adolescents and adults. Therefore, the guide is aimed primarily at professionals working in Primary Care (paediatricians, family physicians, nurses, social workers). Given the content of the document produced, the information will be useful for other professionals involved in the detection and treatment of ASDs, both within the educational field (teachers in general and Counselling Teams) and social services (Early Childhood Units). It also targets parents who come to this first level of care. For the latter it is a tool that will allow them to know what are ASDs, the diagnostic process, mitigate the stress caused by the uncertainty, lack of information, and may manage reliable information so as to avoid guidelines, which have not been endorsed by evidence. The resources currently available in Primary Care have been taken into account before finalizing the recommendations. This guide does not address issues related to the treatment of ASD. For more information about this issue, please consult the Guide on good practice for the treatment of autism spectrum disorders 48. Given the diversity of clinical pictures, this guide does not make recommendations on issues that may be associated with ASD such as the treatment of epilepsy, CLINICAL PRACTICE GUIDELINES IN THE SPANISH NHS 25

28 hyperactivity, anxiety, depression, sleep disorder, eating disorders, aggression, self-harm, obsessive rituals, attention deficit disorder and others. As this guide has a national approach, issues related to the organisation of health services in particular areas are not addressed, though it tries to establish some basic recommendations on criteria for referral to specialised care, so that the guide may also be disseminated to other professionals related to the care of ASDs. 26 CLINICAL PRACTICE GUIDELINE FOR THE MANAGEMENT OF PATIENTS WITH AUTISM SPECTRUM DISORDERS IN PRIMARY CARE

29 3. Methodology The methodology used is set out in the Manual for the Development of CPG of the Ministry of Health 13. The steps followed are: Constitution of the guide development group, composed of professionals from: Primary Care (paediatricians, family physicians and nurses), Specialised Care (neurologists, psychologists and psychiatrists for children and teenagers) and experts from the Health Technology Assessment Unit (UETS); besides two representatives of patients with ASD have participated within the development team group, from the early stages of the project, in the development of this guide. Constitution of a subgroup, with members of the guide s group for the development of the patient-oriented version. Definition of the scope and objectives of the guide. Formulation of clinical questions using the Patient / Intervention / Comparison / Outcome (PICO) format. Literature search in Medline, Embase, Pascal Biomed, Cochrane Plus, DARE, HTA, Clinical Evidence, INAHTA, NHS, PsycINFO, EED, CINDOC. Languages: English, Spanish. Population studier: children from 0 to 6 years old. Publication Year Limitation: limited to primary education. First we searched to find clinical practice guidelines (CPG) and then assessed their quality using the CPG assessment tool developed by international collaboration, Appraisal of Guidelines Research and Evaluation (AGREE). Two CPGs have been included as a secondary source of evidence to help answer some sections of the guide. In a second phase, a search of systematic reviews, meta-analysis and evaluation reports in the databases mentioned above has been carried out. In a third phase, there has been an expanded search of primary studies (clinical trials, observational studies, studies on diagnostic and prognostic testing). Quality assessment of studies and summary of the evidence for each question following the recommendations of SIGN (Scottish Intercollegiate Guidelines Network) for intervention studies and NICE (National Institute for Clinical Excellence) for diagnostic studies. Formulation of recommendations based on formal assessment or reasoned opinion from SIGN and NICE (Annex 1). The controversial recommendations or lack of evidence were resolved by consensus of the development group. An external review of the guide was performed by a group of professionals selected for their knowledge of the pathology addressed, the methodology in the development of guides and the Primary Care setting. Various scientific societies involved were contacted: Asociación Española de Profesionales del Autismo (AETAPI) (Spanish Society of Professionals in Autism), Asociación Española de Pedia tría en Atención Primaria (AEPAP) (Spanish Association of Primary Care Paediatrics), Federación de Asociaciones de Enfermería Comunitaria y de Atención Primaria (FAECAP) (Spanish Federation of Community Nursing and Primary Care), Sociedad Española de Neurolo gía Pediátrica (SENP) (Spanish Society CLINICAL PRACTICE GUIDELINES IN THE SPANISH NHS 27

30 for Paediatric Neurology), Asociación Nacional de Enfermería de Salud Mental (ANESM) (National Association of Mental Health Nursing), Confederación Española de Organizaciones a favor de las Personas con Discapacidad Intelectual (FEAPS) (Spanish Confederation of Organisations in favour of People with Intellectual Disabilities), and the Asociación Española de Psiquiatría del Niño y el Adolescente (AEPNYA) (Spanish Association of Child and Adolescent Psychiatry). For the participation of patients, the associations involved are: Confederación de Autismo de España (CAE) (Spanish Autism Confederation) and the Federación Española de Asociaciones de Padres/Tutores de Personas con Autismo (FESPAU) (Spanish Federation of Associations of Parents/ Guardians of Children with Autistic Disorders). All societies are represented by one of the development group members or external reviewers. In the material that presents in detail the information with the methodological process of the CPG (search strategy for each clinical question, guides tables) is available. Update of the GUIDE The UETS, responsible for the publication of the Guide will also be responsible for its update within a period of 3-5 years, or earlier, depending on the new evidence. This update is done through the incorporation of updated literature searches, particularly focusing on those aspects where the recommendations could be substantially modified. The methodology to carry out this update process is reflected in the Methodological Manual Update for Clinical Practice Guidelines, available at 28 CLINICAL PRACTICE GUIDELINE FOR THE MANAGEMENT OF PATIENTS WITH AUTISM SPECTRUM DISORDERS IN PRIMARY CARE